GSS Gene Glutathione synthetase deficiency NGS Genetic Test
Also known as: GSS deficiency test, Glutathione synthetase gene test, GSS gene analysis
GSS Gene Glutathione synthetase deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
To diagnose glutathione synthetase deficiency by identifying pathogenic mutations in the GSS gene through NGS technology, guiding clinical management and genetic counseling.
- Test Code
- 2015
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
Provide detailed clinical history and undergo genetic counseling to create a family pedigree chart of affected members.
Method: Venipuncture or FTA card application
Laboratory Analysis
A blood sample will be drawn by a trained phlebotomist, or a blood drop applied to an FTA card under sterile conditions.
Report Delivery
The sample will be securely transported to the laboratory for NGS analysis and processing.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose glutathione synthetase deficiency by identifying pathogenic mutations in the GSS gene through NGS technology, guiding clinical management and genetic counseling.
How to Prepare
- Use sterile blood collection tubes for venipuncture
- For FTA card, ensure proper application of a single blood drop
- Label samples accurately with patient details
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"This test is essential for diagnosing glutathione synthetase deficiency, enabling early intervention and genetic counseling to manage symptoms and improve patient outcomes."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or lipemic samples
- Insufficient sample volume
- Incorrect labeling or mismatched patient information
Understanding Your Results
No pathogenic variants detected
No evidence of GSS gene mutations; clinical symptoms may require further investigation
Pathogenic variant detected
Confirms diagnosis of glutathione synthetase deficiency; recommend management and genetic counseling
If symptoms like seizures, jaundice, hemolytic anemia, or developmental delays are present, or with a family history of metabolic disorders, consult a geneticist or pediatric specialist promptly.
Limitations
- ⚠May not detect all genetic variants or epigenetic changes
- ⚠Requires clinical correlation and genetic counseling for interpretation
Risks & Considerations
- ●Minor bruising at puncture site
- ●Rare risk of infection
- ●Slight discomfort during blood draw
Interfering Factors
- ●Poor sample quality or contamination
- ●Degraded DNA specimens
Frequently Asked Questions
What is glutathione synthetase deficiency?
What are the common symptoms of GSS deficiency?
How is the GSS gene test performed?
What is the cost of the GSS Gene Test in India?
Is home collection available for this test?
How long does it take to get the test results?
Who should consider getting this genetic test?
Is genetic counseling necessary before the test?
What do the test results indicate?
Are there any risks associated with the test?
How accurate is the NGS genetic test for GSS deficiency?
Can this test be used for prenatal diagnosis?
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Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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